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X-linked hypogammaglobulinemia (CUI C0241932) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0241932

Semantic Type: Disease or Syndrome

Synonyms & Abbreviations: (see Synonym Details)
HYPOGAMMAGLOBULINEMIA, X-LINKED
X-linked hypogammaglobulinaemia
X-linked hypogammaglobulinemia (disorder)
X-linked hypogammaglobulinemia

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X20Db SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 2 MSH
HM D000361 MSH
HM D040181 MSH
MDA 20121105 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RN 0 MSH
SC 3 MSH
SOS mutation in Bruton tyrosine kinase MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D80.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q99.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D80.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q99.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D80.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY WITH HYPOGAMMAGLOBULINEMIA AND PROGRESSIVE NEUROLOGICAL DETERIORATION SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY WITH HYPOGAMMAGLOBULINEMIA AND PROGRESSIVE NEUROLOGICAL DETERIORATION SYNDROME CHOOSE R29.818 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 719156006 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D80.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~F79 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R29.818 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20Db SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T800781 MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0241932

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